rs606231312

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs606231312(-;C)

Make rs606231312(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

112917915

Gene

SLC16A1

is a	snp
is	mentioned by
dbSNP	rs606231312
dbSNP (classic)	rs606231312
ClinGen	rs606231312
ebi	rs606231312
HLI	rs606231312
Exac	rs606231312
Gnomad	rs606231312
Varsome	rs606231312
LitVar	rs606231312
Map	rs606231312
PheGenI	rs606231312
Biobank	rs606231312
1000 genomes	rs606231312
hgdp	rs606231312
ensembl	rs606231312
geneview	rs606231312
scholar	rs606231312
google	rs606231312
pharmgkb	rs606231312
gwascentral	rs606231312
openSNP	rs606231312
23andMe	rs606231312
SNPshot	rs606231312
SNPdbe	rs606231312
MSV3d	rs606231312
GWAS Ctlg	rs606231312

Max Magnitude

0

ClinVar
Risk	rs606231312(C;C)
Alt	rs606231312(C;C)
Reference	Rs606231312(-;-)
Significance	Pathogenic
Disease	Monocarboxylate transporter 1 deficiency
Variation	info
Gene	SLC16A1
CLNDBN	Monocarboxylate transporter 1 deficiency, autosomal dominant
Reversed	1
HGVS	NC_000001.10:g.113460538dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000148039.3,